Varaico: Literature-Extracted Genetic Variants

NR2E3

434 papers

RefSeq Summary

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic developmen...

Pfam Domains

zf-C4aa 45–115UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 205–395UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group E member 3

HGNC Alias Symbols

PNR; rd7; RP37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014249.4

p.V118M

c.352G>A

Surrounding Variants

4 papers

NM_014249.4

p.V118L

c.352G>C

4 papers

NM_014249.4

p.V118L

c.352G>T

1 paper

NM_014249.4

p.Q119K

c.355C>A

15 papers

NM_014249.4

p.E121K

c.361G>A

1 paper

NM_014249.4

p.E121*

c.361G>T

5 papers

NM_014249.4

p.R122C

c.364C>T

1 paper

NM_014249.4

p.R122H

c.365G>A

1 paper

NM_014249.4

p.P124fs

c.370_371fs

3 papers

NM_014249.4

p.P124L

c.371C>T

10 papers

NM_014249.4

p.R125*

c.373C>T

1 paper

NM_014249.4

p.R125Q

c.374G>A

1 paper

NM_014249.4

p.T127delFs

c.381delA